Details of Disease

General Information of Disease (ID: DISAG1SZ)

Disease Name Mullegama-Klein-Martinez syndrome
Synonyms MULLEGAMA-KLEIN-MARTINEZ SYNDROME; Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities; MKMS
Disease Hierarchy
DISYKSRF: Genetic disease
DISAG1SZ: Mullegama-Klein-Martinez syndrome
Disease Identifiers
MONDO ID
MONDO_0026722
UMLS CUI
C5193008
OMIM ID
301022
MedGen ID
1683985

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STAG2 OTR6X1Q7 Strong X-linked [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.